SWISSVAR
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1 protein found in SwissVar (3 variants)

with gene/protein name Q96SD1

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q96SD1 DCR1C_HUMAN severe combined immunodeficiency autosomal recessive t-cell-negative/b-cell-negative/nk-cell-positive with sensitivity to ionizing radiation p.Gly118Val
p.Gly135Glu


Q96SD1 DCR1C_HUMAN severe combined immunodeficiency athabaskan type
Q96SD1 DCR1C_HUMAN omenn syndrome p.His35Asp